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Challenges and Opportunities in Prenatal Diagnosis
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Challenges and Opportunities in Prenatal Diagnosis

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Obstetrics & Gynecology".

Deadline for manuscript submissions: 20 March 2026 | Viewed by 3523

Special Issue Editors

Dr. Diana Massalska

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Guest Editor
1. Second Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Inflancka 6, 00-189 Warsaw, Poland
2. Warsaw Institute of Women’s Health, Inflancka 6, 00-189 Warsaw, Poland
Interests: prenatal diagnosis; genetics; ultrasonography; complications of pregnancy
Dr. Julia Bijok

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Guest Editor
1. Endoscopic Simulation Centre, Centre of Postgraduate Medical Education, Marymoncka 99/103, 01-813 Warsaw, Poland
2. Warsaw Institute of Women’s Health, Inflancka 6, 00-189 Warsaw, Poland
Interests: prenatal diagnosis; genetics; ultrasonography; complications of pregnancy

Special Issue Information

Dear Colleagues,

Prenatal diagnosis has advanced significantly in recent years and constitutes a powerful tool in modern obstetrics, offering opportunities to improve pregnancy outcomes. Early detection of fetal infections and genetic or structural abnormalities enables better planning for prenatal as well as postnatal care, including options of in utero treatment.

On the other hand, advanced prenatal diagnosis brings significant challenges that must be carefully managed. Implementation of advanced techniques demands knowledge regarding their sensitivity and specificity, as well as their limitations and clinical interpretations of the results, which makes prenatal counselling especially demanding.

This Special Issue, “Challenges and Opportunities in Prenatal Diagnosis”, in the Journal of Clinical Medicine aims to cover the following areas: advancements in fetal imaging, challenges and opportunities of prenatal genetic testing and counselling, advancements and limitations of diagnosis of fetal infections, fetal genetic and structural defects, and personalized prenatal medicine.

Dr. Diana Massalska
Dr. Julia Bijok
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • prenatal diagnosis
  • genetic testing
  • fetal imaging
  • fetal therapy
  • personalized prenatal medicine

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Published Papers (2 papers)

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11 pages, 665 KB  
Article
Physiological Determinants of PR Interval in Healthy Fetuses: Insights from Correlation and Regression Modeling
by Grzegorz Swiercz, Katarzyna Janiak, Lukasz Pawlik, Marta Mlodawska, Piotr Kaczmarek and Jakub Mlodawski
J. Clin. Med. 2025, 14(21), 7522; https://doi.org/10.3390/jcm14217522 - 23 Oct 2025
Viewed by 444
Abstract
Background: The fetal mechanical PR interval (mPR), measured using pulsed-wave Doppler, is a widely used parameter to assess atrioventricular conduction in fetuses, particularly in cases at risk of developing atrioventricular (AV) block. However, the physiological factors that influence mPR readings are not [...] Read more.
Background: The fetal mechanical PR interval (mPR), measured using pulsed-wave Doppler, is a widely used parameter to assess atrioventricular conduction in fetuses, particularly in cases at risk of developing atrioventricular (AV) block. However, the physiological factors that influence mPR readings are not fully understood. This study aimed to identify determinants affecting the measurement of the mPR interval using the mitral valve/aorta (MV/Ao) Doppler method in a cohort of structurally normal fetuses. Methods: We retrospectively analyzed 925 fetuses with normal echocardiographic findings and no structural cardiac or extracardiac anomalies. Correlation analysis, group comparisons, trend testing, and multivariable modeling were performed to assess the impact of biometric and Doppler parameters on mPR interval measurements. Results: The median mPR interval across the cohort was 116 ms (interquartile range: 108–123 ms). Fetuses were categorized into four gestational age groups (≤19 weeks, 20–23 weeks, 24–27 weeks, and ≥28 weeks). Significant differences in mPR were observed between gestational age groups (p < 0.01), with a positive trend across increasing gestational age (p < 0.0001). The strongest correlation was an inverse relationship between mPR and fetal heart rate (FHR) (ρ = −0.256, p < 0.01). Multivariable regression identified five independent predictors of mPR: lower FHR, greater biparietal diameter (BPD), larger pulmonary valve diameter (PVD), increased fronto-occipital diameter (FOD), and lower umbilical artery pulsatility index (UA PI). The final model explained approximately 9.9% of the variance in mPR interval (R2 = 0.099). Conclusions: The fetal mPR interval increases with gestational age and is primarily influenced by fetal heart rate, even after adjusting for other factors. Certain biometric and Doppler parameters also contribute modestly to mPR variation. These findings highlight the importance of accounting for physiological variability when interpreting mPR measurements in clinical fetal cardiology. Full article
(This article belongs to the Special Issue Challenges and Opportunities in Prenatal Diagnosis)
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15 pages, 593 KB  
Systematic Review
Does the Vaginal Microbiota Influence the Incidence of the Preterm Premature Rupture of Membranes?
by Stepan Feduniw, Natalia Zeber-Lubecka, Michal Pruc, Zuzanna Gaca, Łukasz Szarpak and Michal Ciebiera
J. Clin. Med. 2025, 14(18), 6577; https://doi.org/10.3390/jcm14186577 - 18 Sep 2025
Cited by 1 | Viewed by 1574
Abstract
Introduction: The study aimed to provide a systematic review and analysis of previously reported studies investigating the association between the bacterial microbiome and the incidence of preterm premature rupture of membranes (PPROM). Material and Methods: A comprehensive literature search across many [...] Read more.
Introduction: The study aimed to provide a systematic review and analysis of previously reported studies investigating the association between the bacterial microbiome and the incidence of preterm premature rupture of membranes (PPROM). Material and Methods: A comprehensive literature search across many databases via 01 March 2023, including PubMed, Web of Science, Embase, and the Cochrane Library. Results: A total of 20 studies were reviewed, all of which provided a comprehensive analysis of the microbial makeup in pregnant women. The findings suggest that disturbances in the bacterial microflora correlate with a heightened risk of PPROM. Conclusions: There was a significant reduction of naturally prevalent vaginal species (in the vaginal flora of women with PPROM such as Lactobacillus spp., Weissella spp., and Rickettsiales spp. This was accompanied by the dominance of other bacterial species such as Sneathia spp., Prevotella spp., Prevotella bivia, Prevotella timonensis, Peptniphilus, Streptococcus spp., Dialister spp., Lactobacillus iners, Gardnerella vaginalis, Ochrobactrum spp. Megasphaera spp., Faecalibacterium spp., Bifidobacterium spp., Xanthomonadales spp., Gammaproteobacteria spp., Alphaproteobacteria spp., Bacteroides spp., Sphingomonas spp., Streptococcus agalactiae, Escherichia coli, Staphylococcus aureus, Chlamydia trachomatis, Ureaplasma urealyticum, Ureaplasma parvum or Group B Streptococcus begin to dominate, leading to PPROM. Recognising the microbial patterns could lead to the development of risk-based microbiological interventions and probiotic treatment, potentially improving the management and outcomes of patients with PPROM. Full article
(This article belongs to the Special Issue Challenges and Opportunities in Prenatal Diagnosis)
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